Definition

Definition:

• Rare disorder: hepatic vein obstruction/narrowing, impairs liver blood flow.
• Acute/chronic forms, involves one/multiple hepatic veins.
• Diverse clinical manifestations, consider in acute/chronic liver disease cases.
• Differentiate from veno-occlusive disease (after stem-cell transplant).
• Chronic BCS possibly genetic, linked to myeloproliferative disease.

Aetiology

Causes of Budd-Chiari Syndrome:

1. Thrombosis:
   • Most common cause.
   • Affects hepatic veins or inferior vena cava.
2. Haematological Causes:
   • Polycythemia vera, myeloproliferative disorders.
   • Thrombophilic conditions: protein C, S, antithrombin III deficiencies, factor V Leiden.
   • Antiphospholipid antibody syndrome, essential thrombocytosis.
   • Paroxysmal nocturnal hemoglobinuria, post bone marrow transplant.
3. Reduced Blood Flow:
   • Vena caval abnormalities, right heart failure, constrictive pericarditis.
4. Obstetric Causes:
   • During pregnancy, postpartum.
5. Drug-Related Causes:
   • Combined oral contraceptives, hormone replacement therapy, urethane.
6. Infections:
   • Hydatid disease, amoebic abscesses, aspergillosis, syphilis, tuberculosis.
7. Chronic Inflammatory Conditions:
   • Inflammatory bowel disease, sarcoidosis, lupus, Sjögren’s syndrome, Bechet’s disease mixed connective tissue disease.
8. Malignancy-Related Causes:
   • Hepatocellular carcinoma, renal cell carcinoma, Wilms’ tumour, adrenal carcinoma, leiomyosarcoma.
9. Other Causes:
   • Trauma, surgery, alpha 1-antitrypsin deficiency, idiopathic (30% cases).

Risk Factors

Risk Factors for Budd-Chiari Syndrome:

• Underlying prothrombotic disorder:
  • Factor V Leiden mutation.
  • Antiphospholipid antibodies.

• Other Risk Factors:
  • Oral contraceptive use.
  • Pregnancy.
  • Recent surgery.
  • Liver disease.

Pathophysiology

Pathophysiology of Budd-Chiari Syndrome:

• Obstruction of Hepatic Veins:
  • Leads to increased liver pressure, congestion, and blood flow impairment.
• Consequences:
  • Liver cell damage.
  • Liver enlargement.
  • Formation of collateral vessels to bypass blocked veins.
• Progression:
  • Over time, liver fibrosis may develop.
  • Cirrhosis can also result.

Differential Diagnosis

Differential Diagnosis for Budd-Chiari Syndrome:

• Cirrhosis.
• Portal hypertension.
• Portal vein thrombosis.
• Hepatic veno-occlusive disease (common after bone marrow transplantation).
• Right-sided heart failure.
• Appendicitis.
• Biliary atresia.
• Chronic granulomatous disease.
• Congenital hepatic fibrosis.
• Cystic fibrosis.
• Cytomegalovirus infection.
• Intestinal malrotation.
• Intussusception.
• Multicystic renal dysplasia.
• Nephrotic syndrome.
• Pancreatitis and pancreatic pseudocyst.
• Constrictive pericarditis.
• Syphilis.
• Toxoplasmosis.

Epidemiology

Epidemiology of Budd-Chiari Syndrome:

• Rare condition with unclear UK prevalence.
• Estimated incidence: 1 in 100,000 to 1 in 1 million per year.
• Can affect any age but most common in people aged 20s to 50s.
• Global variation:
  • Idiopathic forms common in South Asia.
  • Hypercoagulable disorders common in the West.
  • Different thrombosis causes in various regions (e.g., Turkey: Hydatid disease, Behçet’ disease).

Clinical Presentation (Signs and Symptoms)

Clinical Presentation of Budd-Chiari Syndrome (BCS)

• Common Signs and Symptoms:
  • Hepatomegaly (enlarged liver).
  • Ascites (abdominal fluid accumulation).
  • Sudden, severe abdominal pain.
  • Jaundice (yellowing of skin and eyes).
  • Liver dysfunction signs: elevated liver enzymes, abnormal coagulation tests.
  • Severe cases may lead to acute liver failure.

Classic Triad of BCS Features:

• Abdominal pain (sudden and severe).
• Ascites (causing abdominal distension).
• Tender hepatomegaly (enlarged liver with tenderness).

Varied Presentation:

• Consider in liver disease cases.
• Typically presents with abdominal pain, jaundice, and ascites.
• Rapid progression to acute liver failure possible.
• Usually requires multiple obstructed hepatic veins for symptoms.
• May present suddenly with severe pain, rapidly developing ascites, hepatomegaly, jaundice, acute kidney injury, and potential liver failure.
• Gradual presentation often with ascites (jaundice may be absent).
• About 50% of gradual cases have renal impairment.
• Additional findings may include dilated veins on the abdomen and chest and splenomegaly.

Investigations

Diagnostic Investigations for Budd-Chiari Syndrome (BCS)

• Imaging Studies:
  • Ultrasound with Doppler Flow Studies (highly sensitive, recommended).
  • CT Scan and MRI (visualize liver and hepatic veins, MRI preferred).
  • 3D MRI angiography (enhancement).
• Blood Tests:
  • Liver Function Tests (may show mild elevation).
  • Prothrombin Time (may be prolonged).
  • Ascitic Fluid Analysis (high-protein content; consider risks).
• Radio-Imaging:
  • MRI: Prominent caudate lobe.
  • Doppler Ultrasound (exclude thrombosis, identify vein alterations, caudate lobe hypertrophy).
  • Caval Venography (exclude caval webs and occluded hepatic veins).
• Liver Biopsy:
  • Often shows centrilobular congestion.
• Overall Approach:
  • Combine imaging, blood tests, and liver biopsy for diagnosis and liver damage assessment.

Management

Management of Budd-Chiari Syndrome

• Goals:
  • Relieve hepatic venous obstruction.
  • Preserve liver function.
  • Manage complications.
• Treatment Options:
  • Anticoagulation to prevent clot formation.
  • Interventions: Angioplasty, stent placement, surgical shunts.
  • Liver transplantation for severe cases.
• Symptomatic Relief:
  • Diuretics for ascites.
  • Dietary sodium restriction.
• Stepwise Approach:
  • Address underlying cause.
  • Medical treatment: anticoagulation.
  • Endovascular treatment: Angioplasty, stenting, thrombolysis, Transjugular portosystemic shunt (TIPS).
  • Surgical decompression if congestion persists: TIPS, other shunts.
  • Balloon angioplasty � stent for inferior vena caval web.
  • Liver transplantation for decompensated cirrhosis.
• Additional Considerations:
  • Warfarin for chronic inferior vena caval thrombosis.
  • Local thrombolysis preferred.
  • Percutaneous angioplasty � stent.
  • Address transplantation challenges with venoplasty using autologous vein grafts.

Prognosis

Prognosis of Budd-Chiari Syndrome:

• Factors affecting prognosis: underlying cause, extent of liver damage, prompt treatment.
• Favorable prognosis with early diagnosis, appropriate management, preservation of liver function.
• Five-year survival with treatment may reach 90%.
• Less favorable prognosis in advanced cases requiring liver transplantation.
• Complications like liver cirrhosis impact prognosis.
• Fulminant liver failure, hepatic vein invasion, renal cell carcinoma reported in some cases.

Complications

Complications of Budd-Chiari Syndrome:

• Complications:
  • Hepatic failure with encephalopathy.
  • Portal hypertension.
  • Oesophageal varices with hemorrhage.
  • Bacterial peritonitis.
  • Hepatorenal syndrome (in advanced chronic liver disease).

• Significant Morbidity and Mortality:
  • Complications contribute to severe outcomes.

• Necessary Management:
  • Prompt intervention and surveillance to prevent/manage complications.